Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121917901
rs121917901
0.790 0.440 10 49478437 stop gained G/A snv 7.2E-05 4.9E-05
CUI: C3551173
Disease: UV-SENSITIVE SYNDROME 1
UV-SENSITIVE SYNDROME 1
0.700 0
dbSNP: rs121917902
rs121917902
0.790 0.440 10 49524073 stop gained G/A snv
CUI: C3551173
Disease: UV-SENSITIVE SYNDROME 1
UV-SENSITIVE SYNDROME 1
0.700 0
dbSNP: rs121917903
rs121917903
0.925 0.160 10 49532736 stop gained G/A snv 8.0E-06 7.0E-06
CUI: C3551173
Disease: UV-SENSITIVE SYNDROME 1
UV-SENSITIVE SYNDROME 1
0.700 0
dbSNP: rs373227647
rs373227647
0.790 0.440 10 49472472 splice acceptor variant T/C snv 8.0E-06 7.0E-06
CUI: C3551173
Disease: UV-SENSITIVE SYNDROME 1
UV-SENSITIVE SYNDROME 1
0.700 0
dbSNP: rs376526037
rs376526037
0.776 0.440 10 49483504 stop gained G/A snv 1.6E-05 2.8E-05
CUI: C3551173
Disease: UV-SENSITIVE SYNDROME 1
UV-SENSITIVE SYNDROME 1
0.700 0